Abdominal Pain: A Unique Presentation of Neurofibromatosis-1

Neurofibromatosis type 1 (NF-1) is a common autosomal dominant

neurocutaneous disorder affecting 1 in 3000 people. It often

presents with a myriad of cutaneous features including,

neurofibromas, Lisch nodules, café-au-lait macules, axillary

freckling, and plexiform neuromas (PFN). Many other non-

cutaneous manifestations have been observed in NF-1.

Gastrointestinal (GI) stromal tumors, malignant peripheral nerve

sheath tumors, and adenocarcinoma are commonly found in the GI

tract of NF-1 and can manifest as a complaint of abdominal pain.

Here we present a unique case of NF-1 with an initial presenting

symptom of abdominal pain caused by PFN located outside the

gastrointestinal tract.

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A 17-year-old female was admitted for investigation of non-radiating

abdominal pain in the right upper quadrant. The patient did not have

a significant medical history or family history of NF-1; however, her

mother was found to have multiple café au lait macules. Physical

examination revealed numerous café-au-lait macules on her limbs

(Fig. 1) and torso, axillary freckling and three subcutaneous nodules

were noted on the neck and face. Further inspection revealed bilateral

Lisch nodules (Fig. 2).

Cervical MRI revealed PNF’s from the foramen magnum to T1

extending into the neuroforamen bilaterally. Imaging studies of the

cervical, thoracic, and lumbar regions revealed innumerable tumors

around the margins of multiple transverse processes, posterior ribs,

and neural foramen. Plexiform neurofibromas were also found

extending into the retropertieum, pelvis, and illiopsoas

muscles. Imaging of the bowel was negative for gastrointestinal

tumors (Fig. 3)(Fig.4)

No signs of cord compression or neurological symptoms were found

although countless neurofibromas were located. Other structural

symptoms such as disc atrophy, intramedullary signal abnormality, or

hemorrhage were not present. The chief complaint of abdominal

discomfort was likely caused by PNF’s compressing structures in the

abdomen since gastrointestinal tumors were not found on MRI or

esophagogastroduodenoscopy (EGD) with biopsy.

There was no acute neurosurgical intervention warranted. It was

recommended that she have an MRI of the cervical/thoracic/lumbar-

spine in 1 year, or sooner if she should have any acute changes. The

patient was released from the hospital and is being followed by

dermatology, ophthalmology, and neurosurgery services.

CASE PRESENTATION

Table 1- NIH diagnostic criteria for NF-19

Abdominal complaints related to NF-1 tumors are fairly common;

however, the etiology of this condition is often due to

gastrointestinal tumors which are reported in 2-25% of NF-1

patients.1,2 Visceral and gastrointestinal tumors are often

asymptomatic but may appear as pain, palpable masses, GI bleeding,

vessel compression, or bowel occlusion.12 Patients with NF-1 can

present with a wide variety of abdominal tumors including

phaeochromocytomas, gastrointestinal stromal tumors (GISTs),

malignant peripheral nerve sheath tumors (MPNSTs), and PFNs.

This patient is unusual because the abdominal distress was caused by

plexiform neurofibromas (PFNs) located outside of the GI tract. Our

case highlights the importance of timely identification and

management of NF-1 patients in order to properly monitor tumors

for malignant progression.

Neurofibromatosis is a common condition with a reported incidence of

approximately 1 in 3000.1,2,3 The diagnostic criteria originally

established by the NIH in 1988 (see Table 1) has been shown to be

very specific and sensitive in correctly diagnosing NF-1 patients in

early childhood, however many patients, are not diagnosed until

adolescence or early adulthood.4,5 Specific dermatological

manifestations of NF-1 include café au lait patches, skin freckling,

hypopigmented macules, Lisch nodules, and cutaneous and

plexiform nodules, most of which were present in our patient. (Table

2)

As with our patient, many NF-1 patients are only identified through

incidental imaging from a seemingly unrelated and somewhat

unusual complaint.6 Exotic presentations of NF-1 have been

reported in the literature and range from signs of spinal cord

compression, incontinence due to tumor growths in the bladder,

breathing difficulties, epigastric pain, and gastric outlet

obstruction.3,7,8,9,10,11

Figure 1 - Large café au lait patch noted on the left lateral

thigh

Brandon Nickle DO (PGY-3) *,Blaze Emerson MS**, Kimberly Hull DO***, Jacqueline Thomas DO*** Leeor Porges DO****, Carlos Nousari MD*****

Dermatology Resident PGY-3, Broward Health Medical Center/NSUCOM* OMS-IV, NSUCOM** Dermatologist, Fort Lauderdale, FL*** Dermatology Resident PGY-4,

Broward Health Medical Center/NSUCOM**** Program Director Broward Health Medical Center/NSUCOM*****

Figure 2 - Lisch nodules

Diagnostic criteria for NF1

NIH consensus development conference 19884

· 6 or more café au lait macules: >5mm in diameter in pre-pubertal and >15

mm in post-pubertal individuals. For each lesion the longest diameter is

measured.

· 2 or more neurofibromas of any type or one plexiform neurofibroma

· Freckling in the axillary or inguinal regions

· Optic Glioma

· Two or more Lisch nodules

· Bony dysplasia +/- pseudoarthrosis

· First degree relative with NF1

*At least 2 of the clinical features must be present to make the diagnosis of NF1

Table 2-Cutaneous manifestations and common age of

presentation of NF-1 9

.

RADIOGRAPHICAL DATA

CLINICAL PHOTOS TABLESABSTRACT

Figure 3 (Left) and Figure 4 (Right)- Numerous plexiform

neurofibromas noted in the pelvis and thoracic region on

MRI

DISCUSSION